Caroli F - Search Results

1

Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology.

Santacroce R, Ratti A, Caroli F, Foglieni B, Ferraris A, Cremonesi L, Margaglione M, Seri M, Ravazzolo R, Restagno G, Dallapiccola B, Rappaport E, Pollak ES, Surrey S, Ferrari M, Fortina P. Santacroce R, et al. Among authors: caroli f. Clin Chem. 2002 Dec;48(12):2124-30. Clin Chem. 2002. PMID: 12446467

2

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.

Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M. Caroli F, et al. Clin Genet. 2007 Nov;72(5):427-33. doi: 10.1111/j.1399-0004.2007.00869.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894839

3

Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction.

De Giorgio R, Seri M, Cogliandro R, Cusano R, Fava M, Caroli F, Panetta D, Forabosco P, Barbara G, Ravazzolo R, Ceccherini I, Corinaldesi R, Stanghellini V. De Giorgio R, et al. Among authors: caroli f. Clin Genet. 2001 Feb;59(2):131-3. doi: 10.1034/j.1399-0004.2001.590212.x. Clin Genet. 2001. PMID: 11260216 No abstract available.

4

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G. Marini M, et al. Among authors: caroli f. Am J Med Genet A. 2003 Mar 1;117A(2):112-5. doi: 10.1002/ajmg.a.10163. Am J Med Genet A. 2003. PMID: 12567406

5

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I. D'Osualdo A, et al. Among authors: caroli f. Eur J Hum Genet. 2005 Mar;13(3):314-20. doi: 10.1038/sj.ejhg.5201323. Eur J Hum Genet. 2005. PMID: 15536479

6

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Rusmini M, Federici S, Caroli F, Grossi A, Baldi M, Obici L, Insalaco A, Tommasini A, Caorsi R, Gallo E, Olivieri AN, Marzano A, Coviello D, Ravazzolo R, Martini A, Gattorno M, Ceccherini I. Rusmini M, et al. Among authors: caroli f. Ann Rheum Dis. 2016 Aug;75(8):1550-7. doi: 10.1136/annrheumdis-2015-207701. Epub 2015 Sep 17. Ann Rheum Dis. 2016. PMID: 26386126

7

A method for point mutation analysis that links SSCP and dye primer fluorescent sequencing.

Chiarelli I, Porfirio B, Mattiuz PL, Seri M, Caroli F, Celli I, Romeo G, Volorio S, Zollo M. Chiarelli I, et al. Among authors: caroli f. Mol Cell Probes. 1998 Jun;12(3):125-31. doi: 10.1006/mcpr.1998.0159. Mol Cell Probes. 1998. PMID: 9664573

8

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B. Seri M, et al. Among authors: caroli f. Int J Mol Med. 1999 Sep;4(3):285-90. doi: 10.3892/ijmm.4.3.285. Int J Mol Med. 1999. PMID: 10425280

9

Adult-onset Alexander disease : report on a family.

Balbi P, Seri M, Ceccherini I, Uggetti C, Casale R, Fundarò C, Caroli F, Santoro L. Balbi P, et al. Among authors: caroli f. J Neurol. 2008 Jan;255(1):24-30. doi: 10.1007/s00415-007-0654-0. Epub 2007 Nov 21. J Neurol. 2008. PMID: 18004641

10

Repertoire breadth of human CD4+ T cells specific for HIV gp120 and p66 (primary antigens) or for PPD and tetanus toxoid (secondary antigens).

Li Pira G, Oppezzi L, Seri M, Westby M, Caroli F, Fenoglio D, Lancia F, Ferraris A, Bottone L, Valle MT, Kunkl A, Romeo G, Dalgleish AG, Manca F. Li Pira G, et al. Among authors: caroli f. Hum Immunol. 1998 Mar;59(3):137-48. doi: 10.1016/s0198-8859(98)00004-4. Hum Immunol. 1998. PMID: 9548073

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